NM_005360.5(MAF):c.702A>C (p.Gly234=)
|
rs779108045
|
0.01232
|
NM_005360.5(MAF):c.696C>A (p.Gly232=)
|
rs868331592
|
0.01160
|
NM_005360.5(MAF):c.611G>T (p.Gly204Val)
|
rs867401075
|
0.01145
|
NM_005360.5(MAF):c.453C>A (p.Gly151=)
|
rs529173060
|
0.00540
|
NM_005360.5(MAF):c.1179G>A (p.Gln393=)
|
rs149118803
|
0.00086
|
NM_005360.5(MAF):c.433G>A (p.Gly145Ser)
|
rs550438083
|
0.00072
|
NM_005360.5(MAF):c.649G>A (p.Gly217Ser)
|
rs977933498
|
0.00068
|
NM_005360.5(MAF):c.882G>A (p.Arg294=)
|
rs140303158
|
0.00061
|
NM_005360.5(MAF):c.715G>A (p.Ala239Thr)
|
rs561314990
|
0.00058
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
NM_005360.5(MAF):c.285C>A (p.Thr95=)
|
rs369752568
|
0.00010
|
NM_005360.5(MAF):c.1028C>T (p.Ala343Val)
|
rs201126542
|
0.00006
|
NM_005360.5(MAF):c.412C>A (p.Leu138Met)
|
rs771268967
|
0.00003
|
NM_005360.5(MAF):c.743C>A (p.Pro248Gln)
|
rs764041224
|
0.00002
|
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)
|
rs775799498
|
0.00001
|
NM_005360.5(MAF):c.942C>T (p.His314=)
|
rs765806184
|
0.00001
|
NC_000016.10:g.(?_79594440)_(79599922_?)del
|
|
|
NM_005360.5(MAF):c.-30GGC[7]
|
rs5818251
|
|
NM_005360.5(MAF):c.1119-12T>C
|
|
|
NM_005360.5(MAF):c.138C>T (p.Cys46=)
|
|
|
NM_005360.5(MAF):c.161C>T (p.Ser54Leu)
|
rs727502766
|
|
NM_005360.5(MAF):c.172A>G (p.Thr58Ala)
|
rs727502767
|
|
NM_005360.5(MAF):c.173C>T (p.Thr58Ile)
|
rs727502769
|
|
NM_005360.5(MAF):c.176C>A (p.Pro59His)
|
rs727502770
|
|
NM_005360.5(MAF):c.176C>T (p.Pro59Leu)
|
rs727502770
|
|
NM_005360.5(MAF):c.185C>G (p.Thr62Arg)
|
rs727502771
|
|
NM_005360.5(MAF):c.185C>T (p.Thr62Met)
|
rs727502771
|
|
NM_005360.5(MAF):c.197C>T (p.Ser66Leu)
|
|
|
NM_005360.5(MAF):c.206C>G (p.Pro69Arg)
|
rs727502768
|
|
NM_005360.5(MAF):c.260A>C (p.His87Pro)
|
|
|
NM_005360.5(MAF):c.264G>A (p.Leu88=)
|
|
|
NM_005360.5(MAF):c.293C>A (p.Pro98Gln)
|
rs878873480
|
|
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)
|
rs1555530022
|
|
NM_005360.5(MAF):c.308C>A (p.Pro103His)
|
|
|
NM_005360.5(MAF):c.435_440del (p.143GA[2])
|
rs753758729
|
|
NM_005360.5(MAF):c.456C>T (p.Gly152=)
|
rs1913849090
|
|
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
|
|
|
NM_005360.5(MAF):c.487G>C (p.Val163Leu)
|
rs1913845255
|
|
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
|
|
|
NM_005360.5(MAF):c.528C>G (p.Gly176=)
|
rs2143809805
|
|
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)
|
|
|
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
|
|
|
NM_005360.5(MAF):c.594C>T (p.Gly198=)
|
|
|
NM_005360.5(MAF):c.60A>T (p.Glu20Asp)
|
rs1913894901
|
|
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
|
|
|
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
|
|
|
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
|
|
|
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
|
|
|
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)
|
|
|
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)
|
|
|
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)
|
rs887468453
|
|
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)
|
rs887468453
|
|
NM_005360.5(MAF):c.696C>T (p.Gly232=)
|
rs868331592
|
|
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)
|
rs1229626204
|
|
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)
|
|
|
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)
|
|
|
NM_005360.5(MAF):c.712G>T (p.Gly238Cys)
|
|
|
NM_005360.5(MAF):c.726G>T (p.Ala242=)
|
|
|
NM_005360.5(MAF):c.768C>G (p.His256Gln)
|
rs1555529827
|
|
NM_005360.5(MAF):c.797T>G (p.Leu266Arg)
|
rs2143802492
|
|
NM_005360.5(MAF):c.810T>G (p.Ser270=)
|
rs2143802343
|
|
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
|
|
|
NM_005360.5(MAF):c.828G>A (p.Arg276=)
|
|
|
NM_005360.5(MAF):c.860T>G (p.Ile287Ser)
|
|
|
NM_005360.5(MAF):c.861C>T (p.Ile287=)
|
|
|
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
|
|
|
NM_005360.5(MAF):c.881G>A (p.Arg294Gln)
|
rs1597847611
|
|
NM_005360.5(MAF):c.892A>C (p.Asn298His)
|
|
|
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
|
|
|
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)
|
rs786205221
|
|
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
|
|
|
NM_005360.5(MAF):c.905C>A (p.Ala302Asp)
|
rs1481963503
|
|
NM_005360.5(MAF):c.905C>T (p.Ala302Val)
|
rs1481963503
|
|
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)
|
rs1913782042
|
|
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)
|
rs1913781557
|
|
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
|
|
|
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)
|
|
|
NM_005360.5(MAF):c.939A>G (p.Arg313=)
|
rs1231719173
|
|
NM_005360.5(MAF):c.984C>G (p.Asp328Glu)
|
|
|